ataxia telangiectasia


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a·tax·i·a tel·an·gi·ec·ta·si·a

, ataxia-telangiectasia [MIM*208900]
an autosomal recessive multisystem disorder consisting of ataxia, ocular apraxia, hypotonia, proprioceptive sensory loss, areflexia, and choreoathetosis; onset typically in early childhood; systemic features include increased susceptibility to malignancies, conjunctival and cutaneous telangiectasia, and recurrent pulmonary infections due to immunodeficiencies. Caused by breaks on chromosome 11q at q22-q23, producing failure of DNA repair.

a·tax·ia tel·an·gi·ec·ta·si·a

(ă-tak'sē-ă tel-an'jē-ek-tā'zē-ă)
A slowly progressive multisystem disorder with ataxia appearing with the onset of walking; telangiectases of the conjunctiva and skin; athetosis and nystagmus; and recurrent infections of the respiratory system caused by immunoglobulin deficiencies. Approximately 70% of affected patients have an IgA deficiency concomitant with decreased T-helper cell function.

Louis-Bar,

Denise, mid-20th century Belgian neuropathologist.
Louis-Bar syndrome - an autosomal recessive disorder characterized by cerebellar ataxia and telangiectasia. Synonym(s): ataxia telangiectasia
References in periodicals archive ?
Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation?
The first report of a family with ataxia telangiectasia is attributed to Syllaba and Henner (1926).
Chessa, "l-carnitine enhances resistance to oxidative stress by reducing DNA damage in Ataxia telangiectasia cells," Mutation Research/Genetic Toxicology and Environmental Mutagenesis, vol.
Caffeine inhibits activation of ataxia telangiectasia mutated (ATM), and ataxia telangiectasia and Rad3 related (ATR) proteins.
While the signs of cerebellar dysfunction had started acutely, their continuation for more than 2 weeks prompted further investigation for an inherited cause of progressive chronic ataxia (our differential diagnosis included ataxia telangiectasia (no telangiectasia were present clinically and the immunoglobulin levels were normal), abetalipoproteinaemia, Friedreich's ataxia and spinocerebellar ataxia.
(20) Another member of PIKK family is ATM, which is mutated in a genetic disorder, ataxia telangiectasia. (21) ATM binds to and is activated by DSB via NBS1/ MRE11/RAD50 (Nijmegen breakage syndrome 1, meiotic recombination 11, radiation sensitivity 50, respectively) complex.
The team demonstrated, for the first time, that mice deficient in the Wip1 gene were resistant to weight gain and atherosclerosis via regulation of the Ataxia telangiectasia mutated gene (ATM) and its downstream signalling molecule mTor.
Other diseases of connection to Sephardi origin include: Alpha-Thalassemia, Ataxia Telangiectasia, Corticosterone Methyloxidase Type II Deficiency, Costeff Optical Atrophy, Cystic Fibrosis (CF), Familial Creutzfeldt-Jakob Disease, Familial Tumoral Calcinosis (Normophosphatemic Type), Inclusion Body Myophy Type 28, Metachromic Leukodystrophy, Polyglandular Deficiency Syndrome, Pseudocholinesterase Deficiency, Spinal Muscular Athrophy (S.MA) and Wolman Disease.
The Ataxia Telangiectasia Mutated (ATM) gene is one candidate for such a susceptibility gene.

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